Gene: AHI1 ×
Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1554338016
rs1554338016
AHI1
1 1.000 0.080 6 135429945 missense variant G/A snv 0.700 0
dbSNP: rs372659908
rs372659908
AHI1
2 0.925 0.160 6 135433081 stop gained G/A snv 1.2E-05 2.8E-05 0.700 0
dbSNP: rs587783013
rs587783013
AHI1
2 0.925 0.160 6 135433119 stop gained C/T snv 1.6E-05 7.0E-06 0.700 0
dbSNP: rs755246809
rs755246809
AHI1
7 0.827 0.280 6 135404951 frameshift variant T/- delins 5.9E-04 4.9E-05 0.700 0
dbSNP: rs773278338
rs773278338
AHI1
1 1.000 0.080 6 135428682 stop gained -/CT ins 8.2E-06 0.700 0
dbSNP: rs777215595
rs777215595
AHI1
1 1.000 0.080 6 135394853 stop gained G/C snv 6.4E-05 4.9E-05 0.700 0
dbSNP: rs797045224
rs797045224
AHI1
2 0.925 0.160 6 135433206 missense variant T/C snv 0.700 0